Phenotype #0000172995

Individual ID 00229789
Associated disease EIEE
Phenotype details does not walk; no speech; comprehension turns to voice only; 6m-regression; profound DD or ID; 6m-onset seizures (status epilepticus); MRI enlarged ventricles, prominent cortical sulci, thin corpus callosum; hypotonia; dystonic movement disorder; no stereotypies; no behavioral anomalies; hirsute long eyelashes, micrognathia, large pinnae; 3y-left hemiplegia after status epilepticus
Diagnosis/Initial early infantil epileptic encephalopathy
Inheritance Isolated (sporadic)
Diagnosis/Definite EIEE-64
Age/Examination 8y (8 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Intellectual_dis -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2019-04-10 22:37:14 +02:00 (CEST)
Date last edited N/A

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